Canonical Allele Identifier: CA157462
Gene: BMPR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 41782
dbSNP Id: rs11528010

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86876022C>A , CM000672.2:g.86876022C>A GRCh38
NC_000010.10:g.88635779C>A , CM000672.1:g.88635779C>A GRCh37
NC_000010.9:g.88625759C>A NCBI36
NG_009362.1:g.124384C>A , LRG_298:g.124384C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480152.3:c.4C>A ENSP00000483569.2:p.Pro2Thr
ENST00000635816.2:c.4C>A ENSP00000489707.1:p.Pro2Thr
ENST00000636056.2:c.4C>A ENSP00000490273.1:p.Pro2Thr
ENST00000372037.8:c.4C>A MANE Select ENSP00000361107.2:p.Pro2Thr
ENST00000635816.1:c.4C>A ENSP00000489707.1:p.Pro2Thr
ENST00000636056.1:c.4C>A ENSP00000490273.1:p.Pro2Thr
ENST00000638429.1:c.4C>A ENSP00000492290.1:p.Pro2Thr
ENST00000372037.7:c.4C>A ENSP00000361107.1:p.Pro2Thr
ENST00000480152.2:c.4C>A ENSP00000483569.1:p.Pro2Thr
NM_004329.2:c.4C>A , LRG_298t1:c.4C>A NP_004320.2:p.Pro2Thr
XM_011540103.1:c.4C>A XP_011538405.1:p.Pro2Thr
XM_011540104.1:c.4C>A XP_011538406.1:p.Pro2Thr
XM_011540103.2:c.4C>A XP_011538405.1:p.Pro2Thr
XM_011540104.2:c.4C>A XP_011538406.1:p.Pro2Thr
NM_004329.3:c.4C>A MANE Select NP_004320.2:p.Pro2Thr